Summary
In the article “Cellular Metabolism and Disease: What Do Metabolic Outliers Teach Us?,” DeBerardinis and Thompson (2012), provide a comprehensive overview of the role of three different types of metabolism (catabolism, anabolism, and waste disposal) in biological and physiological pathways in the human body, their relationships with cellular processes, and contribution to the development of multiple diseases. The researchers observe that since cellular functions are deeply interrelated with metabolism, any metabolic abnormality can have a ripple effect extending to other systems and may have a very long reach, often triggering disease progression.
Nowadays, researchers and scientists are aware of multiple heritable metabolic abnormalities and anomalies, which induce such conditions as alkaptonuria, albinism, and others. Inborn errors of metabolism affect almost every single biochemical pathway and organ system in the body. Therefore, they may result in a wide range of phenotypes embracing “clinically silent abnormalities in metabolite abundance, chronic/progressive accumulation of toxic macromolecules, and severe, acutely life-threatening states of bioenergetic catastrophe” (DeBerardinis & Thompson, 2012, p. 5). DeBerardinis and Thompson (2012) consider that in a similar way, metabolic errors may provoke such diseases as cancer because clinical research continues to reveal the abundance of glucose and lactate in tissues affected by tumors. It means that cancer may be regarded as one of the vivid examples of diseases defined by genetic, pathological metabolic distortions, which contribute to malignant transformations and growth of tumors.
The summarized study demonstrates that metabolism is largely defined by genetic factors. Since more and more evidence showing its connection to the development of diseases appears, new ways of disease prevention, early diagnosis (e.g., through metabolic imaging), and treatment can be developed in the future. It is valid to presume that these new technologies will be created on the junction of such a procedure as metabolic profiling and genomic studies.
Commentary
The evidence provided by DeBerardinis and Thompson (2012) in their article can relate to the experience of many individuals. Even though people may not be aware of a significant role of sound metabolism in the maintenance of their health, even a slight look into its nature can reveal the truth of this essential process. I first became familiar with the effects of metabolic perturbations on health when one of my family members was diagnosed with diabetes type 2. After this, a long-term investigation of the disorder and factors contributing to it commenced. It became apparent that abnormal glucose metabolism is one of the major processes of triggering diabetes development. An obvious conclusion made based on this finding relates to the fact that diabetes can be prevented through the maintenance of proper carbohydrate metabolism in the body, i.e., through healthy nutrition and dieting.
The study by DeBerardinis and Thompson (2012) implies that, although not in every disease the influence of metabolic perturbations on its progression is as clear as in diabetes, many of the conditions can be controlled through the improvement of metabolism in a particular organ system or the body as a whole. The data discussed by the researcher prompts some promising topics for research because by investigating the part in which metabolic mechanisms take place, the occurrence of multiple disorders may be life-changing for many individuals with conditions that are difficult to cure nowadays. For instance, I have recently learned that fibromyalgia involves hundreds of abnormalities in catabolism. At the same time, many people with this diagnosis remain undertreated due to widespread uncertainty regarding its nature. Thus, further research of underlying metabolic anomalies in fibromyalgia or any other disease may consequently help improve the quality of life of thousands of people and return them to normal life in the future as new methods of treatment will be introduced to clinical practice.